Orphanet: Hereditary retinoblastoma

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Hereditary retinoblastoma

ORPHA:357027

Classification level: Subtype of disorder

Synonym(s): -
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
ICD-10: C69.2
ICD-11: 2D02.2
OMIM: 180200
UMLS: C0751483
MeSH: -
GARD: -
MedDRA: -

Summary

This disease is described under Retinoblastoma

Detailed information

General public

Article for general public
Français (2005, pdf) - Institut Curie
Svenska (2022) - Socialstyrelsen

Guidelines

Clinical practice guidelines
English (2009) - Can J Ophthalmol
Français (2009, pdf) - Canadian Journal of Ophthalmology.

Disease review articles

Review article
English (2006) - Orphanet J Rare Dis

Clinical genetics review
English (2023) - GeneReviews

Disability

Disability factsheet
Français (2016, pdf) - Orphanet

Genetic Testing

Guidance for genetic testing
English (2010) - Eur J Hum Genet

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

Newborn screening

Newborn screening library

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.